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{{Glucose-6-phosphate dehydrogenase deficiency}}
{{Glucose-6-phosphate dehydrogenase deficiency}}
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh@perfuse.org]


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{{CMG}} {{shyam}}; {{AE}}{{MA}}
==Overview==
Patients with G6PD deficiency usually appear normal. Physical examination of patients with G6PD deficiency is usually remarkable for jaundice in hemolysis and [[abdominal tenderness]] in the right upper abdominal quadrant because of hyperbilirubinemia.


==Overview==
==Physical Examination==
'''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme
Physical examination of patients with G6PD deficiency is usually normal.
deficiency as a whole.
 
===Appearance of the Patient===
*Patients with G6PD deficiency usually appear normal.
 
===Vital Signs===
 
*[[Tachycardia]] in acute hemolysis
*[[Tachypnea]] due to anemia
 
===Skin===
 
*Jaundice in hemolysis  <ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref>
*Pallor
 
===HEENT===
* HEENT examination of patients with G6PD deficiency is usually normal
===Neck===
* Neck examination of patients with G6PD deficiency is usually normal
===Lungs===
* Pulmonary examination of patients with G6PD deficiency is usually normal
===Heart===
* Cardiovascular examination of patients with G6PD deficiency is usually normal
===Abdomen===
*[[Abdominal distention]]  
*[[Abdominal tenderness]] in the right upper abdominal quadrant because of hyperbilirubinemia and cholelithiasis<ref name="pmid23801924">{{cite journal |vauthors=Arese P, Gallo V, Pantaleo A, Turrini F |title=Life and Death of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficient Erythrocytes - Role of Redox Stress and Band 3 Modifications |journal=Transfus Med Hemother |volume=39 |issue=5 |pages=328–34 |date=October 2012 |pmid=23801924 |pmc=3678266 |doi=10.1159/000343123 |url=}}</ref>
*Splenomegaly maybe in severe hemolysis
===Genitourinary===
* Dark urine
* Genitourinary examination of patients with G6PD deficiency is usually normal
===Neuromuscular===
* Neuromuscular examination of patients with G6PD deficiency is usually normal
===Extremities===
* Extremities examination of patients with G6PD deficiency is usually normal
==References==
==References==
{{reflist|2}}
{{Reflist|2}}
 
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Latest revision as of 23:24, 19 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [3]

Overview

Patients with G6PD deficiency usually appear normal. Physical examination of patients with G6PD deficiency is usually remarkable for jaundice in hemolysis and abdominal tenderness in the right upper abdominal quadrant because of hyperbilirubinemia.

Physical Examination

Physical examination of patients with G6PD deficiency is usually normal.

Appearance of the Patient

  • Patients with G6PD deficiency usually appear normal.

Vital Signs

Skin

  • Jaundice in hemolysis [1]
  • Pallor

HEENT

  • HEENT examination of patients with G6PD deficiency is usually normal

Neck

  • Neck examination of patients with G6PD deficiency is usually normal

Lungs

  • Pulmonary examination of patients with G6PD deficiency is usually normal

Heart

  • Cardiovascular examination of patients with G6PD deficiency is usually normal

Abdomen

Genitourinary

  • Dark urine
  • Genitourinary examination of patients with G6PD deficiency is usually normal

Neuromuscular

  • Neuromuscular examination of patients with G6PD deficiency is usually normal

Extremities

  • Extremities examination of patients with G6PD deficiency is usually normal

References

  1. Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
  2. Arese P, Gallo V, Pantaleo A, Turrini F (October 2012). "Life and Death of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficient Erythrocytes - Role of Redox Stress and Band 3 Modifications". Transfus Med Hemother. 39 (5): 328–34. doi:10.1159/000343123. PMC 3678266. PMID 23801924.

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